Mutagenetix > Incidental Mutation

Incidental Mutation 'R7841:Pcca'

606331

Institutional Source

Beutler Lab

Gene Symbol

Pcca

Ensembl Gene

ENSMUSG00000041650

Gene Name

propionyl-Coenzyme A carboxylase, alpha polypeptide

Synonyms

C79630

MMRRC Submission

045895-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122771736-123128512 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122800384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 91 (D91E)

Ref Sequence

ENSEMBL: ENSMUSP00000038763 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038374] [ENSMUST00000135578] [ENSMUST00000154206]

AlphaFold

Q91ZA3

Predicted Effect

probably benign
Transcript: ENSMUST00000038374
AA Change: D91E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038763
Gene: ENSMUSG00000041650
AA Change: D91E

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	58	167	2.1e-48	PFAM
Pfam:ATP-grasp_4	169	351	3.8e-15	PFAM
Pfam:RimK	170	372	5.6e-7	PFAM
Pfam:CPSase_L_D2	172	381	2.8e-87	PFAM
Pfam:ATP-grasp	181	351	9.8e-10	PFAM
Pfam:Dala_Dala_lig_C	192	349	7.7e-12	PFAM
Biotin_carb_C	393	501	4.27e-46	SMART
Pfam:Biotin_lipoyl	656	723	1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135578
AA Change: D91E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123422
Gene: ENSMUSG00000041650
AA Change: D91E

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	58	102	6.1e-15	PFAM
Pfam:CPSase_L_D2	116	163	9.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154206

SMART Domains

Protein: ENSMUSP00000120027
Gene: ENSMUSG00000041650

Domain	Start	End	E-Value	Type
Pfam:CPSase_L_chain	43	128	5.7e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice die 24-36 hours after birth due to accelerated ketoacidosis. Death is preceded by reduced milk intake, poor movement, dehydration, accumulation of propionyl-CoA, ketonuria, increased fat deposition and glycogen consumption in liver, and enlarged kidney collecting ducts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	C	5: 103,802,806 (GRCm39)	K16R	possibly damaging	Het
2810408A11Rik	A	G	11: 69,790,112 (GRCm39)	F210L	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
B9d1	A	G	11: 61,397,192 (GRCm39)	Y29C	possibly damaging	Het
Cald1	T	C	6: 34,722,696 (GRCm39)	F115L	unknown	Het
Ccnd1	A	T	7: 144,491,718 (GRCm39)	M107K	probably damaging	Het
Ccnh	G	A	13: 85,337,712 (GRCm39)	A20T	probably benign	Het
Cep162	T	C	9: 87,126,369 (GRCm39)	D181G	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,561,692 (GRCm39)	D262G	probably benign	Het
Cic	A	G	7: 24,985,192 (GRCm39)	Y1146C	probably damaging	Het
Cmtm1	G	A	8: 105,036,108 (GRCm39)	R174C	possibly damaging	Het
Cobl	G	T	11: 12,203,324 (GRCm39)	P1126H	probably damaging	Het
Col14a1	T	A	15: 55,245,876 (GRCm39)	M460K	unknown	Het
Cst11	G	A	2: 148,613,227 (GRCm39)	R33W	possibly damaging	Het
Cyp19a1	A	T	9: 54,079,089 (GRCm39)	V340E	probably benign	Het
Dbt	A	T	3: 116,339,746 (GRCm39)	Q378L	possibly damaging	Het
Dchs1	A	G	7: 105,412,180 (GRCm39)	V1312A	probably benign	Het
Eif3l	T	C	15: 78,973,779 (GRCm39)	M398T	probably benign	Het
Faxc	A	G	4: 21,958,584 (GRCm39)	H247R	probably benign	Het
Fbxl17	T	C	17: 63,794,820 (GRCm39)	R421G	probably damaging	Het
Fbxo3	T	A	2: 103,890,337 (GRCm39)	D450E	unknown	Het
Fmn1	T	C	2: 113,359,810 (GRCm39)		probably null	Het
Foxs1	T	A	2: 152,774,907 (GRCm39)	M49L	possibly damaging	Het
Gucy1a2	A	G	9: 3,634,766 (GRCm39)	E270G	probably benign	Het
Helz2	T	C	2: 180,874,695 (GRCm39)	D1933G	probably damaging	Het
Hspa4	G	A	11: 53,157,887 (GRCm39)	A572V	possibly damaging	Het
Ica1	T	A	6: 8,737,072 (GRCm39)	D174V	probably damaging	Het
Igfbp6	A	T	15: 102,056,352 (GRCm39)	Q137L	possibly damaging	Het
Il1r2	T	C	1: 40,144,628 (GRCm39)	L105P	probably damaging	Het
Iqca1	A	T	1: 89,987,337 (GRCm39)	C72S		Het
Itgbl1	T	C	14: 124,209,645 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,699 (GRCm39)	Q122L	possibly damaging	Het
Kdsr	T	C	1: 106,671,415 (GRCm39)	E198G	probably damaging	Het
Lama2	T	C	10: 27,031,529 (GRCm39)	T1510A	probably benign	Het
Lrrc37a	A	T	11: 103,391,931 (GRCm39)	Y1165N	probably benign	Het
Mycbp2	A	G	14: 103,384,267 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,989,518 (GRCm39)	E1546G	probably damaging	Het
Nacad	A	T	11: 6,551,031 (GRCm39)	V720E	probably benign	Het
Napa	A	G	7: 15,849,559 (GRCm39)	D257G	possibly damaging	Het
Nif3l1	T	C	1: 58,487,042 (GRCm39)	V76A	probably damaging	Het
Nkapd1	A	C	9: 50,521,716 (GRCm39)	S68R	probably damaging	Het
Nphp4	G	A	4: 152,581,140 (GRCm39)	S108N	probably benign	Het
Npr1	A	T	3: 90,362,175 (GRCm39)	L990H	probably damaging	Het
Nup205	A	G	6: 35,224,372 (GRCm39)	R322G	unknown	Het
Or4a79	C	A	2: 89,552,309 (GRCm39)	A49S	probably benign	Het
Or4q3	G	T	14: 50,583,285 (GRCm39)	Q174K	probably benign	Het
Or52n2c	T	A	7: 104,574,066 (GRCm39)	I302F	possibly damaging	Het
Or8c14-ps1	T	G	9: 38,101,777 (GRCm39)	M252R	unknown	Het
Or8c19-ps1	T	A	9: 38,220,817 (GRCm39)	V242E	unknown	Het
Ovch2	G	T	7: 107,393,298 (GRCm39)	Q192K	probably benign	Het
Pole2	T	C	12: 69,251,032 (GRCm39)	T444A	probably damaging	Het
Ppip5k1	T	C	2: 121,173,276 (GRCm39)	K466E	probably benign	Het
Prr35	A	T	17: 26,167,458 (GRCm39)	Y26*	probably null	Het
Ptgfrn	A	T	3: 100,968,126 (GRCm39)	I489N	probably damaging	Het
Rassf1	A	G	9: 107,438,744 (GRCm39)	*341W	probably null	Het
Ret	G	A	6: 118,132,321 (GRCm39)	P1040S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Slc6a17	A	T	3: 107,384,214 (GRCm39)	Y377N	possibly damaging	Het
Snrnp200	C	A	2: 127,078,754 (GRCm39)	D1806E	probably benign	Het
Synj2	G	A	17: 6,094,419 (GRCm39)	R1215H	unknown	Het
Tbc1d5	TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG	TTGCTGCTG	17: 51,106,950 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,913,176 (GRCm39)	D85E	probably damaging	Het
Tram1l1	A	T	3: 124,115,353 (GRCm39)	Q171L	probably damaging	Het
Tram1l1	G	T	3: 124,115,354 (GRCm39)	Q171H	probably damaging	Het
Tspyl4	A	G	10: 34,174,267 (GRCm39)	H253R	probably damaging	Het
Ttn	T	C	2: 76,662,490 (GRCm39)	I23V		Het
Ubr5	T	C	15: 37,981,150 (GRCm39)	N2376D		Het
Ugt2b37	T	C	5: 87,398,489 (GRCm39)	N316D	probably benign	Het
Usp31	A	C	7: 121,247,679 (GRCm39)	S1255A	probably benign	Het
Usp31	A	T	7: 121,276,535 (GRCm39)	V334E	probably damaging	Het
Vmn2r108	A	G	17: 20,690,305 (GRCm39)		probably null	Het
Vmn2r87	T	A	10: 130,333,095 (GRCm39)	T52S	probably benign	Het
Vrk2	C	A	11: 26,421,457 (GRCm39)	L500F	probably damaging	Het
Zan	T	A	5: 137,435,064 (GRCm39)	I2110F	unknown	Het

Other mutations in Pcca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Pcca	APN	14	122,820,041 (GRCm39)	missense	probably benign	0.22
IGL00906:Pcca	APN	14	122,927,545 (GRCm39)	missense	probably benign	0.34
IGL00975:Pcca	APN	14	123,114,312 (GRCm39)	missense	probably damaging	1.00
IGL01329:Pcca	APN	14	122,927,545 (GRCm39)	missense	possibly damaging	0.50
IGL01353:Pcca	APN	14	122,820,029 (GRCm39)	missense	probably damaging	0.98
IGL01672:Pcca	APN	14	122,927,557 (GRCm39)	missense	probably benign	0.02
IGL02621:Pcca	APN	14	122,922,391 (GRCm39)	missense	probably damaging	0.99
IGL02695:Pcca	APN	14	122,820,150 (GRCm39)	splice site	probably benign
IGL02749:Pcca	APN	14	122,771,800 (GRCm39)	missense	probably benign	0.00
IGL02971:Pcca	APN	14	123,126,945 (GRCm39)	missense	probably damaging	0.96
IGL03290:Pcca	APN	14	122,822,518 (GRCm39)	missense	possibly damaging	0.52
IGL03052:Pcca	UTSW	14	123,124,513 (GRCm39)	missense	probably benign
PIT4812001:Pcca	UTSW	14	123,027,794 (GRCm39)	missense	probably benign	0.00
R0549:Pcca	UTSW	14	122,875,789 (GRCm39)	splice site	probably benign
R0866:Pcca	UTSW	14	123,126,957 (GRCm39)	missense	possibly damaging	0.95
R1498:Pcca	UTSW	14	122,854,230 (GRCm39)	missense	probably damaging	1.00
R1749:Pcca	UTSW	14	122,938,542 (GRCm39)	missense	probably damaging	0.97
R2002:Pcca	UTSW	14	123,124,477 (GRCm39)	missense	probably benign	0.00
R2020:Pcca	UTSW	14	123,050,634 (GRCm39)	missense	possibly damaging	0.64
R2086:Pcca	UTSW	14	122,923,527 (GRCm39)	missense	probably damaging	0.99
R3780:Pcca	UTSW	14	122,922,297 (GRCm39)	missense	probably damaging	1.00
R5023:Pcca	UTSW	14	123,027,810 (GRCm39)	missense	probably damaging	1.00
R5643:Pcca	UTSW	14	123,124,481 (GRCm39)	missense	probably damaging	1.00
R5644:Pcca	UTSW	14	123,124,481 (GRCm39)	missense	probably damaging	1.00
R5943:Pcca	UTSW	14	122,896,188 (GRCm39)	missense	probably damaging	0.99
R5966:Pcca	UTSW	14	122,905,998 (GRCm39)	missense	probably damaging	0.96
R6295:Pcca	UTSW	14	122,896,187 (GRCm39)	missense	probably benign	0.10
R6317:Pcca	UTSW	14	122,820,035 (GRCm39)	missense	probably damaging	1.00
R6319:Pcca	UTSW	14	122,820,035 (GRCm39)	missense	probably damaging	1.00
R6361:Pcca	UTSW	14	122,875,794 (GRCm39)	missense	probably benign	0.07
R6989:Pcca	UTSW	14	122,887,700 (GRCm39)	missense	probably damaging	1.00
R7243:Pcca	UTSW	14	123,114,186 (GRCm39)	missense	probably benign
R8026:Pcca	UTSW	14	122,875,794 (GRCm39)	missense	probably benign	0.07
R8463:Pcca	UTSW	14	122,922,526 (GRCm39)	splice site	probably null
R8769:Pcca	UTSW	14	122,854,260 (GRCm39)	missense	probably benign	0.01
R8889:Pcca	UTSW	14	122,795,123 (GRCm39)	splice site	probably benign
R8956:Pcca	UTSW	14	122,975,324 (GRCm39)	missense	probably benign
R9287:Pcca	UTSW	14	122,854,178 (GRCm39)	missense	probably benign	0.00
R9336:Pcca	UTSW	14	122,887,738 (GRCm39)	missense	probably benign	0.04
R9447:Pcca	UTSW	14	122,854,290 (GRCm39)	missense	probably damaging	0.99
R9606:Pcca	UTSW	14	122,901,717 (GRCm39)	missense	probably damaging	1.00
RF024:Pcca	UTSW	14	122,922,310 (GRCm39)	missense	probably damaging	1.00
X0026:Pcca	UTSW	14	122,854,203 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TTAGTTGCCTTCTGGTTGTAAAGGAAC -3'
(R):5'- CACTTCCACTGTGTTTGTGATAAC -3'

Sequencing Primer
(F):5'- AAATTCTCATTGCTAACAGAGGAG -3'
(R):5'- CCACTGTGTTTGTGATAACAGTGGAC -3'

Posted On

2019-12-20